ASPARAGINE SYNTHETASE DEFICIENCY
|
(OMIM:615574)
|
Autosomal recessive chorioretinopathy-microcephaly
|
(Orphanet:2518)
|
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME1
|
(OMIM:224050)
|
CEREBROOCULOFACIOSKELETAL SYNDROME 4
|
(OMIM:610758)
|
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5
|
(OMIM:615763)
|
Cerebro-facio-articular syndrome
|
(Orphanet:314679)
|
Dysequilibrium syndrome
|
(Orphanet:1766)
|
HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2
|
(OMIM:615219)
|
IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES
|
(OMIM:615966)
|
LISSENCEPHALY 6 WITH MICROCEPHALY
|
(OMIM:616212)
|
MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE
|
(OMIM:616080)
|
MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICALMALFORMATIONS
|
(OMIM:604317)
|
MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE
|
(OMIM:604804)
|
MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE
|
(OMIM:608716)
|
MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE
|
(OMIM:614852)
|
MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2
|
(OMIM:616171)
|
MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLARATROPHY
|
(OMIM:615760)
|
Microcephaly - seizures - developmental delay
|
(Orphanet:228418)
|
Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome
|
(Orphanet:329332)
|
Microlissencephaly
|
(Orphanet:1083)
|
PONTOCEREBELLAR HYPOPLASIA, TYPE 10
|
(OMIM:615803)
|
PONTOCEREBELLAR HYPOPLASIA, TYPE 2B
|
(OMIM:612389)
|
RETT SYNDROME, CONGENITAL VARIANT
|
(OMIM:613454)
|
XIA-GIBBS SYNDROME
|
(OMIM:615829)
|